Usher Syndrome Awareness Day is celebrated worldwide on the third Saturday of September each year to raise public awareness about the disorder and to increase funding to find a cure. Usher Syndrome is an autosomal recessive genetic disorder. It is the most common genetic cause of combined deafness and blindness and it affects over 400,000 people worldwide, with about 50,000 of those living in the United States. Usher Syndrome affects a person’s vision, hearing and balance. Vision loss is caused by a progressive vision disorder called retinitis pigmentosa(RP). RP causes the light-sensing cells in the retina to gradually deteriorate, initially resulting in night blindness, followed by a narrowing of the visual field, commonly known as tunnel vision. People with Usher Syndrome are born with or develop hearing loss. Since balance is achieved and maintained through input from the eyes, vestibular organs in the inner ear and the sensory systems of the body, people with Usher Syndrome suffer from balance issues due to vestibular function.
There are 3 clinical types which are determined by the severity and age at which symptoms present and there are at least 11 genetic types which are determined by the gene affected. Type 1 is characterized by severe-profound hearing loss at birth, the onset of RP by age 10 which progresses quickly into almost complete blindness or tunnel vision by early adulthood and severe balance issues resulting in delays in sitting and walking for infants. Type 2 is characterized by moderate-severe hearing loss at birth but normal balance. Onset of RP usually does not begin until late adolescence. Type 3 is characterized by normal hearing and vision and normal or near normal balance at birth. Both hearing and vision slowly begin to deteriorate during adolescence and continue over time. Balance may or may not be affected in the future.
Usher Syndrome is diagnosed with genetic testing and there is currently no cure. Treatment involves managing hearing, vision, and balance problems. Early diagnosis helps tailor educational programs that consider the severity of hearing and vision loss and a child’s age and ability. Treatment and communication services may include hearing aids, assistive listening devices, cochlear implants, auditory (hearing) training, and/or learning American Sign Language. Independent-living training may include orientation and mobility training for balance problems, Braille instruction, and low-vision services.
There are various non-profit organizations, such as the Usher Syndrome Coalition, Ava’s Voice, Hear See Hope, Usher Syndrome Society and Usher 1f Collaborative, to help raise awareness and funding for Usher Syndrome. The Usher Syndrome Coalition also hosts an annual conference on Usher Syndrome and Ava’s Voice hosts a week long camp for children ages 11-14 with Usher Syndrome and a family weekend for those with children ages birth to 10 with Usher Syndrome. In Pennsylvania, we have the State Deaf-Blind Project and the Pennsylvania Partnership for the Deafblind to assists those living with Usher Syndrome and there is also the National Family Association for the Deaf Blind. Someone diagnosed with Usher Syndrome should also register with the USH Trust to stay informed of the latest research, treatment and clinical trials.
On September 3rd, Governor Wolf signed the State Proclamation declaring September 21, 2019 as Usher Syndrome Awareness Day in Pennsylvania. Wayne County will declare the same for their County at their weekly Commissioner’s meeting on September 19th. We encourage you to contact your local municipal government to do the same.